Knowledge base for genomic medicine in Japanese
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家族性膵がん
腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Insertion | NM_000059.4(BRCA2):c.1812_1813insC (p.Ile605fs) | BRCA2 | Pathogenic | 13 | 32907427 | 32907428 | A | AC | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.1853_1854insA (p.Gln619fs) | BRCA2 | Pathogenic | 13 | 32907468 | 32907469 | C | CA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.1922_1923insAT (p.Ser642fs) | BRCA2 | Pathogenic | 13 | 32910414 | 32910415 | C | CAT | reviewed by expert panel | - |
| single nucleotide variant | NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter) | BRCA2 | Pathogenic | 13 | 32910625 | 32910625 | C | A | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.2201_2202insAA (p.Ala735fs) | BRCA2 | Pathogenic | 13 | 32910693 | 32910694 | T | TAA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.2244_2245insTTCAAAAGTGGAATTCAAAA (p.Ser749fs) | BRCA2 | Pathogenic | 13 | 32910736 | 32910737 | C | CTTCAAAAGTGGAATTCAAAA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.2489_2490insT (p.Val831fs) | BRCA2 | Pathogenic | 13 | 32910981 | 32910982 | A | AT | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.2621_2622insG (p.Val875fs) | BRCA2 | Pathogenic | 13 | 32911113 | 32911114 | C | CG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.2757_2758insATGG (p.Pro920fs) | BRCA2 | Pathogenic | 13 | 32911249 | 32911250 | A | AATGG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.2832_2833insTT (p.Lys945fs) | BRCA2 | Pathogenic | 13 | 32911324 | 32911325 | A | ATT | reviewed by expert panel | - |
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